1例PURA综合征的临床及遗传学特征并文献复习

Clinical and genetic characteristics of PURA syndrome:An case analysis and literature review

背景 PURA综合征是PURA基因变异导致的常染色体显性遗传病,多在新生儿期发病,目前国内关于PURA综合征的报道较少。目的 探讨PURA基因变异导致的PURA综合征患者的临床表型及遗传学特征。方法 回顾性分析2022年6月就诊于解放军总医院的1例PURA综合征患者的临床资料,并对已报道的PURA综合征患者的临床和遗传学特征进行文献复习。结果 该例患儿出生后表现为肌张力低下,发育落后,基因检测提示PURA基因变异,c.463T>C p.Y155H(NM_005859.4),新生变异,诊断为PURA综合征。患儿在经康复治疗后,发育较前进步。文献复习提示共报道160例PURA综合征患者,其中国内2例。该病临床表型常见于发育落后、新生儿期肌张力低下/喂养困难/嗜睡、面部畸形特征、癫痫等,且无基因型-表型相关性。结论 PURA综合征多于新生儿期起病。对于新生儿期出现的肌张力低下、喂养困难、嗜睡等,应考虑到PURA基因变异的可能,尽早完善基因检测,做好下一步的遗传咨询。

Background PURA syndrome is an autosomal dominant genetic disease caused by PURA gene variation,which is mostly found in the neonatal period.There are few reports about PURA syndrome in China.Objective To investigate the clinical phenotype and genetic characteristics of patients with PURA syndrome caused by PURA gene variation.Methods Clinical data about one patient with PURA syndrome admitted to Chinese PLA General Hospital in June 2022 were retrospectively analyzed,and the reported clinical and genetic characteristics of patients with PURA syndrome were reviewed.Results The patient presented hypotonia and developmental delay after birth,and the gene test indicated PURA gene variation,c.463T>C p.Y155H(NM_005859.4),de novo variation,which was diagnosed as PURA syndrome.After rehabilitation treatment,the development of the patient made more progress than before.A total of 160 cases of PURA syndrome were reported.Among them,two cases were reported in China.Its clinical phenotypes were commonly seen in developmental delay,hypotonia,feeding difficulties,lethargy,facial deformable features,epilepsy,etc.,and there was no genotype-phenotype correlation.Conclusion PURA syndrome usually starts in the neonatal period.For neonatus with hypotonia,feeding difficulties,lethargy and so on in the neonatal period,we should consider the possibility of PURA gene variation,and genetic testing and genetic counseling should be done as soon as possible.